ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326146 SCV002606944 pathogenic Diamond-Blackfan anemia 2017-12-18 criteria provided, single submitter clinical testing The p.Q110* pathogenic mutation (also known as c.328C>T), located in coding exon 4 of the RPL11 gene, results from a C to T substitution at nucleotide position 328. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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